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Article

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

European journal of human genetics : EJHG - 1 Nov 2017

Stark Zornitza, Dashnow Harriet, Lunke Sebastian, Tan Tiong Y, Yeung Alison, Sadedin Simon, Thorne Natalie, Macciocca Ivan, Gaff Clara, Oshlack Alicia, White Susan M, James Paul A

Abstract excerpt

Rapid identification of clinically significant variants is key to the successful application of next generation sequencing technologies in clinical practice. The Melbourne Genomics Health Alliance (MGHA) variant prioritization framework employs a gene prioritization index based on clinician-generated a priori gene lists, and a variant prioritization index (VPI) based on rarity, conservation and protein effect. We...

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Identifiers

PMID: 28832562
DOI: 10.1038/ejhg.2017.123
PMCID: PMC5643958

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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